School of Public Health, College of Public Health, Taipei Medical University, Taipei, Taiwan.
Master Program in Applied Molecular Epidemiology, College of Public Health, Taipei Medical University, Taipei, Taiwan.
Thromb Haemost. 2021 Mar;121(3):396-404. doi: 10.1055/s-0040-1717116. Epub 2020 Sep 22.
Previous studies indicated that the and genes play critical roles in atherosclerosis and ischemic stroke (IS). The purpose of this study was to investigate the association of combined single-nucleotide polymorphisms in the and genes with the susceptibility to IS.
A case-control study was conducted including 863 IS patients and 863 age- and gender-matched healthy participants. A polygenic score was developed to estimate the contribution of a combination of the and genes to the risk of IS. The interactive effects of traditional risk factors of stroke and the polygenic score on the risk of IS were explored. Additionally, the association between the polygenic score and the progression of atherosclerosis, a potential risk factor of IS, was examined in our healthy controls.
Subjects with a higher polygenic score had an increased risk of IS (odds ratio: 1.83; 95% confidence interval: 1.38-2.43) after adjusting for covariates compared with individuals with a lower polygenic score. An interactive effect of diabetes mellitus and the polygenic score on the risk of IS was observed. A significant positive correlation between the polygenic score and a change in the plaque score (standardized β = 0.42, = 0.0235) in healthy controls with diabetes mellitus was found.
Our results suggested that the combination of the and genes with a history of diabetes mellitus could exacerbate the deterioration of atherosclerosis, thereby increasing the risk of IS. Further studies are warranted to explore our results in other populations.
先前的研究表明，和基因在动脉粥样硬化和缺血性中风（IS）中发挥着关键作用。本研究旨在探讨和基因的联合单核苷酸多态性与 IS 易感性的关系。
进行了一项病例对照研究，纳入了 863 例 IS 患者和 863 名年龄和性别匹配的健康对照者。构建了一个多基因评分，用于评估和基因组合对 IS 风险的贡献。探讨了传统中风危险因素和多基因评分对 IS 风险的交互作用。此外，还在我们的健康对照组中研究了多基因评分与动脉粥样硬化进展（IS 的潜在危险因素）之间的关系。
与多基因评分较低的个体相比，调整了协变量后，多基因评分较高的受试者发生 IS 的风险增加（优势比：1.83；95%置信区间：1.38-2.43）。观察到糖尿病和多基因评分对 IS 风险的交互作用。在患有糖尿病的健康对照组中，多基因评分与斑块评分变化之间存在显著正相关（标准化 β = 0.42，= 0.0235）。
我们的结果表明，和基因与糖尿病史的组合可能会加剧动脉粥样硬化的恶化，从而增加 IS 的风险。需要进一步的研究来在其他人群中探索我们的结果。
